OBJECTIVE: Genetic analyses in humans suggest a role for retinoid-related genes in the pathogenesis of congenital diaphragmatic hernia (CDH). The goal of this study was to investigate the vitamin A status of mothers and their newborns in association with CDH. METHODS: We conducted a hospital-based, case-control study with 22 case and 34 control mothers and their newborns. In maternal and cord blood samples, retinol and retinol-binding protein (RBP) levels were measured with high-performance liquid chromatography and an enzyme-linked immunosorbent assay, respectively. Univariate and multivariate logistic regression analyses were performed to determine crude and adjusted risk estimates. RESULTS: Case newborns had significantly lower levels of retinol (0.60 vs 0.76 μmol/L; P=.003) and RBP (5.42 vs 7.11 mg/L; P=.02) than did control newborns. The multivariate logistic regression analysis showed lower levels of retinol and RBP in association with CDH risk; the odds ratio for retinol levels of <15th percentile (<0.61 μmol/L) was 11.11 (95% confidence interval: 2.54-48.66; P=.001), and that for RBP levels of <15th percentile (<4.54 mg/L) was 4.00 (95% confidence interval: 1.00 -15.99; P=.05). Retinol and RBP levels were not different between case and control mothers. CONCLUSIONS: CDH is strongly associated with low retinol and RBP levels in newborns, independent of maternal retinol status. This is an important finding supporting the idea that human CDH is linked with abnormal retinoid homeostasis.

Congenital diaphragmatic hernia, Newborn, Vitamin A, adult, article, blood sampling, clinical article, congenital diaphragm hernia, controlled, enzyme linked immunosorbent assay, female, high performance liquid chromatography, human, male, maternal blood, newborn, priority journal, retinol, retinol binding protein, study, umbilical cord blood
dx.doi.org/10.1542/peds.2010-0521, hdl.handle.net/1765/21299
Pediatrics (English Edition)
Erasmus MC: University Medical Center Rotterdam

Beurkens, L.W.J.E, Tibboel, D, Lindemans, J, Duvekot, J.J, Cohen-Overbeek, T.E, de Klein, J.E.M.M, … Steegers-Theunissen, R.P.M. (2010). Retinol status of newborn infants is associated with congenital diaphragmatic hernia. Pediatrics (English Edition), 126(4), 712–720. doi:10.1542/peds.2010-0521